LOCUS       NM_001386013            2153 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens zinc finger CW-type and PWWP domain containing 1
            (ZCWPW1), transcript variant 8, mRNA.
ACCESSION   NM_001386013 XM_005250479
VERSION     NM_001386013.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2153)
  AUTHORS   Song,Y., Guo,J., Zhou,Y., Wei,X., Li,J., Zhang,G. and Wang,H.
  TITLE     A loss-of-function variant in ZCWPW1 causes human male infertility
            with sperm head defect and high DNA fragmentation
  JOURNAL   Reprod Health 21 (1), 18 (2024)
   PUBMED   38310235
  REMARK    GeneRIF: A loss-of-function variant in ZCWPW1 causes human male
            infertility with sperm head defect and high DNA fragmentation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2153)
  AUTHORS   Yuan,S., Huang,T., Bao,Z., Wang,S., Wu,X., Liu,J., Liu,H. and
            Chen,Z.J.
  TITLE     The histone modification reader ZCWPW1 promotes double-strand break
            repair by regulating cross-talk of histone modifications and
            chromatin accessibility at meiotic hotspots
  JOURNAL   Genome Biol 23 (1), 187 (2022)
   PUBMED   36068616
  REMARK    GeneRIF: The histone modification reader ZCWPW1 promotes
            double-strand break repair by regulating cross-talk of histone
            modifications and chromatin accessibility at meiotic hotspots.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2153)
  AUTHORS   Cavassim,M.I.A., Baker,Z., Hoge,C., Schierup,M.H., Schumer,M. and
            Przeworski,M.
  TITLE     PRDM9 losses in vertebrates are coupled to those of paralogs ZCWPW1
            and ZCWPW2
  JOURNAL   Proc Natl Acad Sci U S A 119 (9) (2022)
   PUBMED   35217607
  REMARK    GeneRIF: PRDM9 losses in vertebrates are coupled to those of
            paralogs ZCWPW1 and ZCWPW2.
REFERENCE   4  (bases 1 to 2153)
  AUTHORS   Wells,D., Bitoun,E., Moralli,D., Zhang,G., Hinch,A., Jankowska,J.,
            Donnelly,P., Green,C. and Myers,S.R.
  TITLE     ZCWPW1 is recruited to recombination hotspots by PRDM9 and is
            essential for meiotic double strand break repair
  JOURNAL   Elife 9, e53392 (2020)
   PUBMED   32744506
  REMARK    GeneRIF: ZCWPW1 is recruited to recombination hotspots by PRDM9 and
            is essential for meiotic double strand break repair.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2153)
  AUTHORS   Gao,Y., Tan,M.S., Wang,H.F., Zhang,W., Wang,Z.X., Jiang,T., Yu,J.T.
            and Tan,L.
  TITLE     ZCWPW1 is associated with late-onset Alzheimer's disease in Han
            Chinese: a replication study and meta-analyses
  JOURNAL   Oncotarget 7 (15), 20305-20311 (2016)
   PUBMED   26958812
  REMARK    GeneRIF: rs1476679 polymorphism in ZCWPW1 is associated with
            late-onset Alzheimer's disease.
REFERENCE   6  (bases 1 to 2153)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   7  (bases 1 to 2153)
  AUTHORS   Rosenthal,S.L., Barmada,M.M., Wang,X., Demirci,F.Y. and Kamboh,M.I.
  TITLE     Connecting the dots: potential of data integration to identify
            regulatory SNPs in late-onset Alzheimer's disease GWAS findings
  JOURNAL   PLoS One 9 (4), e95152 (2014)
   PUBMED   24743338
  REMARK    GeneRIF: Of those 394 variants, 34 showed strong evidence of
            regulatory function (RegulomeDB score <3), and only 3 of them were
            genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and
            ABCA7/rs3764650).
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2153)
  AUTHORS   Lambert,J.C., Ibrahim-Verbaas,C.A., Harold,D., Naj,A.C., Sims,R.,
            Bellenguez,C., DeStafano,A.L., Bis,J.C., Beecham,G.W.,
            Grenier-Boley,B., Russo,G., Thorton-Wells,T.A., Jones,N.,
            Smith,A.V., Chouraki,V., Thomas,C., Ikram,M.A., Zelenika,D.,
            Vardarajan,B.N., Kamatani,Y., Lin,C.F., Gerrish,A., Schmidt,H.,
            Kunkle,B., Dunstan,M.L., Ruiz,A., Bihoreau,M.T., Choi,S.H.,
            Reitz,C., Pasquier,F., Cruchaga,C., Craig,D., Amin,N., Berr,C.,
            Lopez,O.L., De Jager,P.L., Deramecourt,V., Johnston,J.A., Evans,D.,
            Lovestone,S., Letenneur,L., Moron,F.J., Rubinsztein,D.C.,
            Eiriksdottir,G., Sleegers,K., Goate,A.M., Fievet,N.,
            Huentelman,M.W., Gill,M., Brown,K., Kamboh,M.I., Keller,L.,
            Barberger-Gateau,P., McGuiness,B., Larson,E.B., Green,R.,
            Myers,A.J., Dufouil,C., Todd,S., Wallon,D., Love,S., Rogaeva,E.,
            Gallacher,J., St George-Hyslop,P., Clarimon,J., Lleo,A., Bayer,A.,
            Tsuang,D.W., Yu,L., Tsolaki,M., Bossu,P., Spalletta,G., Proitsi,P.,
            Collinge,J., Sorbi,S., Sanchez-Garcia,F., Fox,N.C., Hardy,J., Deniz
            Naranjo,M.C., Bosco,P., Clarke,R., Brayne,C., Galimberti,D.,
            Mancuso,M., Matthews,F., Moebus,S., Mecocci,P., Del Zompo,M.,
            Maier,W., Hampel,H., Pilotto,A., Bullido,M., Panza,F., Caffarra,P.,
            Nacmias,B., Gilbert,J.R., Mayhaus,M., Lannefelt,L., Hakonarson,H.,
            Pichler,S., Carrasquillo,M.M., Ingelsson,M., Beekly,D., Alvarez,V.,
            Zou,F., Valladares,O., Younkin,S.G., Coto,E., Hamilton-Nelson,K.L.,
            Gu,W., Razquin,C., Pastor,P., Mateo,I., Owen,M.J., Faber,K.M.,
            Jonsson,P.V., Combarros,O., O'Donovan,M.C., Cantwell,L.B.,
            Soininen,H., Blacker,D., Mead,S., Mosley,T.H. Jr., Bennett,D.A.,
            Harris,T.B., Fratiglioni,L., Holmes,C., de Bruijn,R.F.,
            Passmore,P., Montine,T.J., Bettens,K., Rotter,J.I., Brice,A.,
            Morgan,K., Foroud,T.M., Kukull,W.A., Hannequin,D., Powell,J.F.,
            Nalls,M.A., Ritchie,K., Lunetta,K.L., Kauwe,J.S., Boerwinkle,E.,
            Riemenschneider,M., Boada,M., Hiltuenen,M., Martin,E.R.,
            Schmidt,R., Rujescu,D., Wang,L.S., Dartigues,J.F., Mayeux,R.,
            Tzourio,C., Hofman,A., Nothen,M.M., Graff,C., Psaty,B.M., Jones,L.,
            Haines,J.L., Holmans,P.A., Lathrop,M., Pericak-Vance,M.A.,
            Launer,L.J., Farrer,L.A., van Duijn,C.M., Van Broeckhoven,C.,
            Moskvina,V., Seshadri,S., Williams,J., Schellenberg,G.D. and
            Amouyel,P.
  CONSRTM   European Alzheimer's Disease Initiative (EADI); Genetic and
            Environmental Risk in Alzheimer's Disease; Alzheimer's Disease
            Genetic Consortium; Cohorts for Heart and Aging Research in Genomic
            Epidemiology
  TITLE     Meta-analysis of 74,046 individuals identifies 11 new
            susceptibility loci for Alzheimer's disease
  JOURNAL   Nat Genet 45 (12), 1452-1458 (2013)
   PUBMED   24162737
REFERENCE   9  (bases 1 to 2153)
  AUTHORS   He,F., Umehara,T., Saito,K., Harada,T., Watanabe,S., Yabuki,T.,
            Kigawa,T., Takahashi,M., Kuwasako,K., Tsuda,K., Matsuda,T.,
            Aoki,M., Seki,E., Kobayashi,N., Guntert,P., Yokoyama,S. and Muto,Y.
  TITLE     Structural insight into the zinc finger CW domain as a histone
            modification reader
  JOURNAL   Structure 18 (9), 1127-1139 (2010)
   PUBMED   20826339
REFERENCE   10 (bases 1 to 2153)
  AUTHORS   Perry,J. and Zhao,Y.
  TITLE     The CW domain, a structural module shared amongst vertebrates,
            vertebrate-infecting parasites and higher plants
  JOURNAL   Trends Biochem Sci 28 (11), 576-580 (2003)
   PUBMED   14607086
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092849.4 and AC005071.2.
            
            On Aug 3, 2020 this sequence version replaced XM_005250479.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.4318921.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               AC092849.4         62777-62912
            137-243             AC092849.4         66344-66450
            244-300             AC092849.4         70802-70858
            301-554             AC092849.4         71597-71850
            555-633             AC092849.4         72291-72369
            634-751             AC092849.4         74297-74414
            752-903             AC092849.4         75024-75175
            904-1026            AC092849.4         75383-75505
            1027-1143           AC005071.2         206734-206850       c
            1144-1267           AC005071.2         205845-205968       c
            1268-1343           AC005071.2         204534-204609       c
            1344-1448           AC005071.2         204000-204104       c
            1449-1529           AC005071.2         202319-202399       c
            1530-1596           AC005071.2         201484-201550       c
            1597-1688           AC005071.2         201000-201091       c
            1689-2153           AC005071.2         198178-198642       c
FEATURES             Location/Qualifiers
     source          1..2153
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2153
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /note="zinc finger CW-type and PWWP domain containing 1"
                     /db_xref="GeneID:55063"
                     /db_xref="HGNC:HGNC:23486"
                     /db_xref="MIM:618900"
     exon            1..136
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            137..243
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            244..300
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     CDS             273..1850
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /note="isoform 6 is encoded by transcript variant 8; zinc
                     finger, CW-type with PWWP domain 1; zinc finger CW-type
                     PWWP domain protein 1; zinc finger CW-type and PWWP domain
                     1"
                     /codon_start=1
                     /product="zinc finger CW-type PWWP domain protein 1
                     isoform 6"
                     /protein_id="NP_001372942.1"
                     /db_xref="GeneID:55063"
                     /db_xref="HGNC:HGNC:23486"
                     /db_xref="MIM:618900"
                     /translation="MMTTLQNKEECGKGPKRIFAPPAQKSYSLLPCSPNSPKEETPGI
                     SSPETEARISLPKASLKKKEEKATMKNVPSREQEKKRKAQINKQAEKKEKEKSSLTNA
                     EFEEIVQIVLQKSLQECLGMGSGLDFAETSCAQPVVSTQSDKEPGITASATDTDNANG
                     EEVPHTQEISVSWEGEAAPEIRTSKLGQPDPAPSKKKSNRLTLSKRKKEAQDEKVEKT
                     QGGHEHRQEDRLKKTVQDHSQIRDQQKGEISGFGQCLVWVQCSFPNCGKWRRLCGNID
                     PSVLPDNWSCDQNTADVQYNRCDIPEETWTGLESDVAYASYIPGSIIWAKQYGYPWWP
                     GMIESDPDLGEYFLFTSHLDSLPSKYHVTFFGETVSRAWIPVNMLKNFQELSLELSVM
                     KKRRNDCSQKLGVALMMAQEAEQISIQERVNLFGFWSRFNGSNSNGERKDLQLSGLNS
                     PGSCLEKKEKEEELEKEEGEKTALRKNLKLPRARPWQPAFQREKKLEQCQRTWAYQRV
                     RGPAPHLRKKSPDTGNP"
     exon            301..554
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            555..633
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            634..751
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            752..903
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1026
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1143
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1267
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1343
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1448
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1529
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1596
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1688
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..2153
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /note="hexamer: AATAAA"
     polyA_site      2153
                     /gene="ZCWPW1"
                     /gene_synonym="ZCW1"
                     /note="major polyA site"
ORIGIN      
        1 gccaatgagg aagaagcgag tctacgccgt tttcccgggg agatgcgccg cccggtctcc
       61 ctgccagcgg agtgctgggc cgaggacagg gcggcagggg tgacagtggg gtccaggaga
      121 gtctcaaaat cctaagcttt cagtatttgt tattgtgaaa gaagttaatt cacctgaaac
      181 agaggagggg caacctgagt tatcagaaag tgacttcctg gccttccctt ctttactgat
      241 cagaggcaca caaagcgtag tttctaagct gaatgatgac aacgttgcag aataaagaag
      301 aatgtggaaa gggaccaaag agaatctttg ccccacctgc acaaaaatct tacagcctgt
      361 taccttgtag ccctaactcc cctaaggagg agaccccggg gatcagttcc ccagagacag
      421 aggccaggat aagcctgcca aaggccagtt taaagaagaa agaggaaaaa gcaaccatga
      481 agaatgttcc aagcagggaa caggagaaaa aaagaaaggc acaaatcaac aagcaagcag
      541 agaagaaaga aaaggaaaaa tcaagtctta ccaatgcaga atttgaggag attgtccaga
      601 ttgttctgca gaagtccctt caggagtgct tggggatggg atctggcctt gattttgcag
      661 agacttcttg tgcccagccc gtagtatcta cccaatcaga caaggagcca ggaattactg
      721 cttctgctac tgatactgat aatgctaatg gagaggaggt accacatact caagagattt
      781 cagtgtcttg ggaaggtgaa gctgcccctg agataaggac atctaagtta ggccagccag
      841 atcctgcacc ctctaagaag aaatccaata gactcacctt aagcaaaaga aagaaggaag
      901 ctcaagatga gaaggtggag aaaactcaag gtggacatga gcacagacag gaagaccgac
      961 taaagaaaac agttcaggat cattctcaga tcagggacca gcaaaaagga gagataagtg
     1021 gttttggtca atgtctggtc tgggtccagt gttccttccc aaactgtggg aaatggaggc
     1081 ggctgtgtgg gaacattgac ccctcagttc tcccagataa ttggtcctgt gatcagaaca
     1141 cagcagatgt gcagtataat cgctgtgata ttcctgagga gacctggaca gggcttgaga
     1201 gtgatgtggc ctatgcctcc tacatcccag gatccatcat ctgggccaag caatacggtt
     1261 acccctggtg gccaggcatg atagaatctg atcctgactt aggggaatat tttcttttta
     1321 cttcccatct tgattccctg ccgtctaagt accatgtgac gttttttgga gaaacagttt
     1381 ctcgtgcatg gatcccagtc aacatgctaa agaacttcca ggagctgtcc ctggagctat
     1441 cagtcatgaa aaagcgcaga aatgactgca gccagaaact gggggtggcc ctgatgatgg
     1501 ctcaagaggc agaacagatc agcattcagg aacgggttaa cttgtttggt ttctggagcc
     1561 gattcaacgg atctaacagt aatggggaaa gaaaagactt acagctctct ggtttgaaca
     1621 gcccaggatc ctgcttagag aaaaaggaga aagaggaaga gttggaaaag gaggaaggag
     1681 agaaaacagc cctaagaaaa aatttaaagc tccccagagc aaggccttgg cagccagctt
     1741 ttcagaggga aaagaagtta gaacagtgcc aaagaacctg ggcctatcag cgtgtaaggg
     1801 ggcctgcccc tcatctgcga aagaagagcc cagacaccgg gaacccctga cccaggaggc
     1861 tggaagtgtc ccccttgagg acgaagcctc cagtgacctg gacctggagc aactcatgga
     1921 agatgttggg agagagctgg ggcagagcgg ggagctgcag cacagcaaca gtgatggcga
     1981 ggacttcccc gtggcgctgt ttgggaagta gctggtgctc ctctgctccc tctttttctc
     2041 ccttctctgg ggcgcaggag ggagaagttg ctaagtgctg ggtctgttca ttggctatga
     2101 ggttcaaatg tgtgtggtgc agtttctgtg ttaataaagc aggttacagt cga
//
